Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family  

作　　者：Hong-Yan Liu Jia Huang Dong Wu Tao Li Liang-Jie Guo Qian-Nan Guo Hong-Dan Wang Rui-Li Wang Yue Wang 

机构地区：[1]Department of Medical Genetics Institute, People's Hospital of Zhenzhou University (Henan Provincial People's Hospital), Zhenzhou, Henan 450053, China [2]Department of Ultrasonic Diagnosis, People's Hospital of Zhenzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China [3]Department of Gynecology and Obstetrics, People's Hospital of Zhenzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China

出　　处：《Chinese Medical Journal》2016年第1期88-91,共4页中华医学杂志（英文版）

摘　　要：Osteogenesis imperfecta （01）, also known as brittle bone disease or Lobstein syndrome, is characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures. Based on clinical, genetic, and radiological features, Sillence et al. classified the OI into four subtypes including type I： Mild, common, with blue sclera; type Ⅱ： Perinatal lethal form; type Ⅲ： Severe and age-related progressive detbrmity, with normal sclera; and type Ⅳ： Moderate severity with normal sclera.Osteogenesis imperfecta （01）, also known as brittle bone disease or Lobstein syndrome, is characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures. Based on clinical, genetic, and radiological features, Sillence et al. classified the OI into four subtypes including type I： Mild, common, with blue sclera; type Ⅱ： Perinatal lethal form; type Ⅲ： Severe and age-related progressive detbrmity, with normal sclera; and type Ⅳ： Moderate severity with normal sclera.

关 键 词：Collagen Type I Alpha 1 Gene Mutation Molecular Diagnosis： Osteogenesis Imperfecta 

分 类 号：Q503[生物学—生物化学] Q754